Association hidradénite suppurée et déficit en mévalonate kinase : deux cas

Benhadou, Farida; Vlaeminck-Guillem, Virginie; Duquesne, Agnès; Mintoff, Dillon; Guillem, Philippe

doi:10.1016/j.fander.2021.09.282

Search citation statements

Order By: Relevance

Paper Sections

Select...

Discussion1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2022

Publication Types

Select...

Article1

Relationship

Self Cite1

Independent0

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…HS can occur in combination with other inherited autoinflammatory syndromes. Two patients with co-morbid HS - mevalonate kinase deficiency ( Benhadou et al, 2021 ), an autosomal recessive inborn error of metabolism which leads to chronic inflammation, have been described. Various studies have also described the co-existance of an HS phenotype in patients bearing pathogenic variation at the MEFV locus ( Abbara et al, 2017 ; Vural et al, 2017 ; Jfri et al, 2019 ; Vural et al, 2019 ).…”

Section: Discussionmentioning

confidence: 99%

The Genomic Architecture of Hidradenitis Suppurativa—A Systematic Review

2022

Self Cite

View full text Add to dashboard Cite

Hidradenitis suppurativa is a chronic, suppurative condition of the pilosebaceous unit manifesting as painful nodules, abscesses, and sinus tracts mostly in, but not limited to, intertriginous skin. Great strides have been made at elucidating the pathophysiology of hidradenitis suppurativa, which appears to be the product of hyperkeratinization and inflammation brought about by environmental factors and a genetic predisposition. The identification of familial hidradenitis suppurativa has sparked research aimed at identifying underlying pathogenic variants in patients who harbor them. The objective of this review is to provide a broad overview of the role of genetics in various aspects of hidradenitis suppurativa, specifically the pathophysiology, diagnosis, and clinical application.

show abstract